Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.H254insFs

PAX8

411 papers

RefSeq Summary

This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired...

Pfam Domains

PAXaa 9–133UCSC'Paired box' domain
Pax2_Caa 337–449UCSCPaired-box protein 2 C terminal

Gene Aliases

HGNC Name

paired box 8

HGNC Alias Symbol

PAX-8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003466.4
p.H254insFs
c.760_761insA
Surrounding Variants
1 paper
NM_003466.4
p.S251F
c.752C>T
4 papers
NM_003466.4
p.S251P
c.751T>C
2 papers
NM_003466.4
p.Y249*
c.747T>G
2 papers
NM_003466.4
p.Y249*
c.747T>A
1 paper
NM_003466.4
p.E258_Q259delFs
c.772_775del4
1 paper
NM_003466.4
p.A248G
c.743C>G
1 paper
NM_003466.4
p.E247*
c.739G>T
1 paper
NM_003466.4
p.E247K
c.739G>A
1 paper
NM_003466.4
p.Y245S
c.734A>C
1 paper
NM_003466.4
p.R242Q
c.725G>A
1 paper
NM_003466.4
p.R242delFs
c.724delG
2 papers
NM_003466.4
p.R242fs
c.724_725fs
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